New blood test potential game-changer for myeloma patients

Painful and invasive bone marrow biopsies performed on Multiple Myeloma (MM) patients to diagnose and analyse their cancer may become a thing of the past, replaced by a new liquid biopsy technique being developed by Alfred Health-Monash University researchers.

The technique, being pioneered by the Myeloma Research Group (MRG) at Monash’s Australian Centre for Blood Diseases (ACBD), at the Alfred Hospital, tests plasma for DNA and RNA circulating in the bloodstream to detect and analyse MM mutations.
MM is an incurable blood cancer characterised by multifocal tumour deposits throughout the bone marrow (see picture).

Currently, bone marrow biopsies are carried out to form a ‘mutational profile’ of the disease in a patient. However, these biopsies do not capture the mutational heterogeneity across the multiple tumour sites, research leader Professor Andrew Spencer said.

With their alternative approach, the researchers used high-sensitivity targeted sequencing of genes of relevance to myeloma in blood samples to test for mutations. Moreover, blood samples already collected from more than 160 patients as part of the M1000 project, a biobank established as a sub-study of Monash University’s Myeloma and Related Diseases Registry, have been stored in such a way that they will be able to undergo the same mutation analysis for future research projects.

The proof-of-concept study, published in the journal ‘Leukemia’ earlier this year, has attracted international attention, and a positive response at the first of two overseas conferences at which the researchers were invited to present their findings.

“We’re still in the developmental phase but the concept has been proven,” Professor Spencer said. “We’ve demonstrated that you can detect more mutations and track what’s happening to them, you can measure them and follow them sequentially – which would be impossible in bone marrow biopsies,” he said.

“To the best of our knowledge the M1000 Project is the only example of prospective liquid biopsy bio-repository project globally, certainly for myeloma.”

Professor Spencer said the liquid biopsy could be used more frequently, was cheaper, less invasive and far more comprehensive than the traditional method.

“I think this is going to be a game-changer for how we manage the disease,” he said. “In the next five or 10 years it will become a standard of care in both the diagnosis and monitoring of patients, and in making therapeutic decisions."

Clinicians would be able to look at the impact of different therapies as different mutations arise, and adjust and personalise treatment accordingly. It may also help them understand why people relapse and to predict this, he said.

Five clinical trials of novel treatment strategies for MM, developed by the MRG, are now underway, incorporating the new technique to help better understand how it can be best applied. These include multi-site trials.

First author on the proof-of-concept study was Dr Sridurga Mithraprabhu, generously supported by The International Myeloma Foundation.